Canonical Allele Identifier: CA473305724
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17634192G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612645G>C , CM000673.2:g.17612645G>C GRCh38
NC_000011.9:g.17634192G>C , CM000673.1:g.17634192G>C GRCh37
NC_000011.8:g.17590768G>C NCBI36
NG_033191.1:g.70273G>C
NG_033191.2:g.70273G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6354G>C ENSP00000382323.2:p.Leu2118=
ENST00000399397.6:c.6318G>C MANE Select ENSP00000382329.2:p.Leu2106=
ENST00000342528.2:c.3372G>C ENSP00000341666.2:p.Leu1124=
ENST00000399391.6:c.6354G>C ENSP00000382323.2:p.Leu2118=
ENST00000399397.5:c.6318G>C ENSP00000382329.2:p.Leu2106=
NM_001277269.1:c.6354G>C NP_001264198.1:p.Leu2118=
NM_001292063.1:c.6318G>C NP_001278992.1:p.Leu2106=
NM_001277269.2:c.6354G>C NP_001264198.1:p.Leu2118=
NM_001292063.2:c.6318G>C MANE Select NP_001278992.1:p.Leu2106=